title: Prenatal diagnosis of pure partial monosomy 18p associated with holoprosencephaly and congenital heart defects.
abstract: We applied CMA to detect chromosomal variations during a prenatal diagnosis and detected a 4.5Mb pure microdeletion at 18p11.3 that was not detected by conventional karyotyping. Fluorescent in situ hybridization (FISH) analysis was performed to confirm the deletion. Accurate breakpoints of the deletion in this patient were used to build correlations between monosomy 18p and the concomitant phenotypes, particularly holoprosencephaly (HPE), which is rarely reported in monosomy 18p11.3.
authors.affiliation: Fetal Medicine Center, The First Affiliated Hospital of Sun Yat-sen University, Guangzhou 510080, China. Electronic address: zhouyifm@163.com.
authors.forename: Zhou
authors.initials: Z
authors.lastname: Yi
authors.forename: Xie
authors.initials: X
authors.lastname: Yingjun
authors.forename: Chen
authors.initials: C
authors.lastname: Yongzhen
authors.forename: Zhong
authors.initials: Z
authors.lastname: Liangying
authors.forename: Shang
authors.initials: S
authors.lastname: Meijiao
authors.forename: Chen
authors.initials: C
authors.lastname: Baojiang
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D000025:Abortion, Eugenic; D000328:Adult; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000175:diagnosis* / Q000235:genetics; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics*; D005260:Female; D006330:Heart Defects, Congenital / Q000175:diagnosis* / Q000235:genetics; D016142:Holoprosencephaly / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis
keywords: CMA; Chromosome Microarray Analysis; Congenital heart defects; FISH; Genotype–phenotype correlation; HPE; Holoprosencephaly; Microarray analysis; Monosomy 18p; Prenatal diagnosis; fluorescent in situ hybridization; holoprosencephaly